Extra

Question 1

What are the two forms of anti-trypsin deficiency? What are the symptoms of each?

Answer 1

Null = A1AT not detected, causes emphysema

Piz and PiS variants = liver failure

Question 2

What is the difference with GGT in PFIC 1 ad 2?

Answer 2

Normal or low

Question 3

What is the cause of benign intrahepatic cholestasis?

Answer 3

Less severe mutation of PIC1 to SCEP, presents 1-2 decade of life.

Question 4

What are the GGT levels in panhypopituitarism?

Answer 4

Normal

Question 5

True or false: sepsis can cause cholestasis at any age

Answer 5

True

Question 6

What is the cause of galactosemia? Ssx?

Answer 6

Deficient Galactose-1-phosphate uridyl transferase

Hypoglycemia, jaundice, etc

Question 7

How do you treat galactosemia?

Answer 7

Stop lactose intake

Question 8

How do you detect galactosemia?

Answer 8

On newborn screen.

Question 9

What is the supplement you should give children who have biliary issues? Why?

Answer 9

Med chain FAs, since they do not need bile to be absorbed

Question 10

Which two diseases are susceptible to DILI d/t drugs they’re taking?

Answer 10

HIV

Hep C

Question 11

True or false: malnutrition predisposes you to DILI

Answer 11

True

Question 12

What are the outcomes, outside of the p450, that acetaminophen is metabolized?

Answer 12

Glucuronosyl

Sulfation

Question 13

What what does N-acetylcysteine turn into when given for acetaminophen poisoning?

Answer 13

Glutathione transferase

Question 14

What is the difference between acute and chronic DILI?

Answer 14

3 months

Cirrhosis with chronic

Question 15

What are the extrahepatic ssx of DILI?

Answer 15

Fever
Rash
Eosinophilia

Question 16

What is the most common placement of the mesh in an abdominal wall hernia? What is the gold standard?

Answer 16

Intraperitoneal

Retrorectus